Progress in studies of pathogenic gene of tuberous sclerosis complex
LIU Lin-li
ZHANG Zheng-zhong
Abstract：Tuberous sclerosis complex(TSC) is an autosomal dominant genetic disease, characterized by epilepsy, intellectual disability, facial angiofibromas and development of hamartomas in several organs. The disease has a genetic heterogeneity, caused by mutations in one of two genes, namely TSC1 or TSC2 gene, which encodes hamartin and tuberin respectively. These two kinds of protein widely express in the organizations and form a heterodimer which lies at the crossroad of many signaling pathways. If mutations occur in either TSC1 or TSC2 gene, it would result in dysregulated mTORC1activation, and finally leads to the occurrence of tuberous sclerosis complex. The current study confirmed that TSC is caused by the mutations of TSC1 or TSC2 gene. This article reviews the research progress of TSC1 and TSC2 genes and their mutations.
Keywords：Tuberous sclerosis complexGenesTSCHeredity
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 44-47 )